ClinVar

NM_000152.5(GAA):c.2739C>G (p.Pro913=)

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80118745 (on Assembly GRCh38)
• Chr17: 78092544 (on Assembly GRCh37)

Preferred name:

NM_000152.5(GAA):c.2739C>G (p.Pro913=)

HGVS:

• NC_000017.11:g.80118745C>G
• NG_009822.1:g.22190C>G
• NM_000152.5:c.2739C>GMANE SELECT
• NM_001079803.3:c.2739C>G
• NM_001079804.3:c.2739C>G
• NP_000143.2:p.Pro913=
• NP_001073271.1:p.Pro913=
• NP_001073272.1:p.Pro913=
• LRG_673t1:c.2739C>G
• LRG_673:g.22190C>G
• NC_000017.10:g.78092544C>G
• NM_000152.3:c.2739C>G
• NM_000152.4(GAA):c.2739C>G
• p.Pro913=

This HGVS expression did not pass validation

Links:

dbSNP: rs370765733

NCBI 1000 Genomes Browser:

rs370765733

Molecular consequence:

• NM_000152.5:c.2739C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001079803.3:c.2739C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001079804.3:c.2739C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2